Variant report

Variant	rs62356723
Chromosome Location	chr5:58419621-58419622
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:58401293..58403478-chr5:58419519..58421802,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17721878	0.85[AMR][1000 genomes]
rs56077650	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57038317	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60564381	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72762617	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv830313	chr5:58273724-58421098	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58396200-58420000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr5:58408400-58422600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr5:58411200-58422800	Weak transcription	Right Ventricle	heart
4	chr5:58412600-58420000	Weak transcription	HSMMtube	muscle
5	chr5:58414600-58421200	Weak transcription	Left Ventricle	heart
6	chr5:58414600-58422600	Weak transcription	Fetal Intestine Large	intestine
7	chr5:58414800-58422800	Weak transcription	Stomach Mucosa	stomach
8	chr5:58418200-58419800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr5:58418200-58420000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr5:58418200-58421200	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr5:58418200-58421200	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr5:58418200-58422800	Enhancers	Primary T cells fromperipheralblood	blood
13	chr5:58418400-58419800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr5:58418400-58420800	Flanking Active TSS	A549	lung
15	chr5:58418400-58421200	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr5:58418600-58420600	Enhancers	Placenta Amnion	Placenta Amnion
17	chr5:58418600-58422800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr5:58418600-58422800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr5:58418600-58423000	Enhancers	Primary hematopoietic stem cells	blood
20	chr5:58418600-58424800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:58418800-58420400	Enhancers	Stomach Smooth Muscle	stomach
22	chr5:58418800-58420600	Flanking Active TSS	Primary T cells from cord blood	blood
23	chr5:58418800-58420600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr5:58418800-58422600	Enhancers	Fetal Heart	heart
25	chr5:58418800-58422800	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr5:58418800-58422800	Enhancers	Fetal Thymus	thymus
27	chr5:58419000-58419800	Enhancers	Colon Smooth Muscle	Colon
28	chr5:58419000-58420000	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr5:58419000-58420400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr5:58419000-58421000	Weak transcription	GM12878-XiMat	blood
31	chr5:58419000-58423000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr5:58419200-58420000	Enhancers	Osteobl	bone
33	chr5:58419200-58420400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr5:58419200-58423000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr5:58419400-58420200	Enhancers	Rectal Smooth Muscle	rectum
36	chr5:58419400-58420400	Enhancers	HSMM	muscle
37	chr5:58419400-58420600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr5:58419400-58420600	Enhancers	Fetal Stomach	stomach
39	chr5:58419400-58422000	Enhancers	Fetal Lung	lung
40	chr5:58419400-58422400	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr5:58419400-58422400	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr5:58419400-58422800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:58419400-58423200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:58419600-58419800	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr5:58419600-58420000	Weak transcription	Fetal Intestine Small	intestine
46	chr5:58419600-58420000	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr5:58419600-58420400	Enhancers	Small Intestine	intestine
48	chr5:58419600-58420600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr5:58419600-58420600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr5:58419600-58420600	Enhancers	Fetal Muscle Leg	muscle

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